Incidental Mutation 'R7777:Zfp672'
| ID |
598964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp672
|
| Ensembl Gene |
ENSMUSG00000049755 |
| Gene Name |
zinc finger protein 672 |
| Synonyms |
4930511N19Rik, 4930488P06Rik |
| MMRRC Submission |
045833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58205940-58221165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58208081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 80
(F80S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
[ENSMUST00000155662]
[ENSMUST00000186859]
|
| AlphaFold |
Q99LH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049353
|
| SMART Domains |
Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057836
AA Change: F80S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: F80S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064786
AA Change: F80S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: F80S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108829
AA Change: F80S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: F80S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153510
|
| SMART Domains |
Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155662
|
| SMART Domains |
Protein: ENSMUSP00000114561
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186859
AA Change: F80S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755
AA Change: F80S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
3.6e-2 |
SMART |
|
ZnF_C2H2
|
71 |
90 |
6.1e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
| Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,911 (GRCm39) |
Y164* |
probably null |
Het |
| Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
| Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
| Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
| Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
| Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,913 (GRCm39) |
P186Q |
probably damaging |
Het |
| Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
| Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
| Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,228,946 (GRCm39) |
D823G |
possibly damaging |
Het |
| Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
| Spata31g1 |
C |
T |
4: 42,970,171 (GRCm39) |
Q53* |
probably null |
Het |
| Spata31g1 |
T |
C |
4: 42,971,095 (GRCm39) |
S143P |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
| Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
| Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
| Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
| Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
|
| Other mutations in Zfp672 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Zfp672
|
APN |
11 |
58,208,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Zfp672
|
UTSW |
11 |
58,207,173 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1485:Zfp672
|
UTSW |
11 |
58,220,395 (GRCm39) |
intron |
probably benign |
|
|
R1664:Zfp672
|
UTSW |
11 |
58,208,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Zfp672
|
UTSW |
11 |
58,206,921 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1853:Zfp672
|
UTSW |
11 |
58,207,790 (GRCm39) |
missense |
probably benign |
|
|
R2074:Zfp672
|
UTSW |
11 |
58,207,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3817:Zfp672
|
UTSW |
11 |
58,207,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4623:Zfp672
|
UTSW |
11 |
58,207,281 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4745:Zfp672
|
UTSW |
11 |
58,220,324 (GRCm39) |
intron |
probably benign |
|
|
R5157:Zfp672
|
UTSW |
11 |
58,207,677 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5240:Zfp672
|
UTSW |
11 |
58,220,527 (GRCm39) |
intron |
probably benign |
|
|
R5510:Zfp672
|
UTSW |
11 |
58,207,456 (GRCm39) |
nonsense |
probably null |
|
|
R6207:Zfp672
|
UTSW |
11 |
58,208,349 (GRCm39) |
start gained |
probably benign |
|
|
R6279:Zfp672
|
UTSW |
11 |
58,208,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6300:Zfp672
|
UTSW |
11 |
58,208,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6432:Zfp672
|
UTSW |
11 |
58,207,758 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6438:Zfp672
|
UTSW |
11 |
58,207,563 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8401:Zfp672
|
UTSW |
11 |
58,207,628 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8489:Zfp672
|
UTSW |
11 |
58,220,681 (GRCm39) |
intron |
probably benign |
|
|
R8826:Zfp672
|
UTSW |
11 |
58,220,590 (GRCm39) |
missense |
unknown |
|
|
R8858:Zfp672
|
UTSW |
11 |
58,208,145 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9298:Zfp672
|
UTSW |
11 |
58,220,590 (GRCm39) |
missense |
unknown |
|
|
RF012:Zfp672
|
UTSW |
11 |
58,206,938 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp672
|
UTSW |
11 |
58,220,786 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1187:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1188:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1189:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1190:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1191:Zfp672
|
UTSW |
11 |
58,220,786 (GRCm39) |
intron |
probably benign |
|
|
Z1191:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1192:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGTGATGATCTCAGGGG -3'
(R):5'- GCTTTCAGTATAGTGCAGTGC -3'
Sequencing Primer
(F):5'- GCGCTCTGCCGAAAAGAG -3'
(R):5'- TCTAGAGTGTGGTGAACG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation